Phenotypic and genetic analysis of a pedigree with 4p16 microduplication and 8p23 microdeletion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 989-992, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-776761
ABSTRACT
OBJECTIVE@#To explore the nature and origin of chromosomal copy number variants (CNVs) in a pedigree affected with mental retardation.@*METHODS@#Genomic CNVs of the proband were analyzed by next generation sequencing (NGS). Chromosomal karyotypes of the proband and his relatives were analyzed with high-resolution karyotyping and fluorescence in situ hybridization (FISH).@*RESULTS@#Clinical phenotypes of the proband and other patients from the pedigree included mental retardation and mild dysmorphism. The results of NGS revealed that the proband carried a 16.24 Mb microduplication at 4p16.3-15.32 and a 2.2 Mb microdeletion at 8p23.3-23.2. Other patients of the pedigree harbored the same variants, while those without the phenotypes did not harbor the variants. The results of high-resolution karyotyping and FISH revealed that the mother of the proband carried a reciprocal translocation between 4p and 8p, and her karyotype was 46,XX,t(4;8)(p16;p23). No karyotypic abnormality was detected in his father.@*CONCLUSION@#The abnormal phenotypes of this pedigree may be attributed to 4p microduplication in conjunct with 8p microdeletion derived from a maternal balanced translocation between 4p and 8p.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Phenotype
/
Chromosomes, Human, Pair 4
/
Chromosomes, Human, Pair 8
/
Genetic Testing
/
Chromosome Aberrations
/
In Situ Hybridization, Fluorescence
/
Chromosome Duplication
/
Genetics
/
Karyotyping
Limits:
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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